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Broadening the Phenotype Spectrum of MECP2 Variants in Men.
Mol Genet Genomic Med
February 2025
Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Background: MECP2 variants cause X-chromosome-linked rare developmental syndromes. Typically, the mutation is sporadic, occurs in females and is fatal in men. Accurate genetic and clinical diagnostics are considered essential for the management of symptoms and the development of new treatments.
View Article and Find Full Text PDFSpectrum and carcinogenic properties of thyroglobulin gene fusions in thyroid.
Endocr Relat Cancer
January 2025
A Nikitski, Department of Pathology, University of Pittsburgh, Pittsburgh, 15261, United States.
Approximately 10-20% of thyroid cancers are driven by gene fusions, which activate oncogenic signaling through aberrant overexpression, ligand-independent dimerization, or loss of inhibitory motifs. We identified 13 thyroid tumors with thyroglobulin (TG) gene fusions and aimed to assess their histopathology and the fusions' oncogenic and tumorigenic properties. Of 11 cases with surgical pathology, 82% were carcinomas and 18% noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP).
View Article and Find Full Text PDFEffect of TKI Maintenance Therapy After Allogeneic Hematopoietic Stem Cell Transplantation on Recurrence of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia p190 and p210 Transcripts: A Multicentre Study.
Clin Lymphoma Myeloma Leuk
January 2025
Department of Haematology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China. Electronic address:
Objective: To analyze the impact of tyrosine kinase inhibitor (TKI) maintenance therapy following allogeneic hematopoietic stem cell transplantation (HSCT) in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL) on recurrence rates and prognosis for the 2 transcripts, p190 and p210.
Methods: We conducted a retrospective analysis of clinical data from 58 patients diagnosed with Ph + ALL who underwent HSCT. All patients received TKI maintenance therapy following hematopoietic reconstruction post-transplantation.
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm.
Genes Chromosomes Cancer
January 2025
Department of Pathology, NYU Grossman School of Medicine, New York, New York, USA.
Gene fusions involving JAZF1 are a recurrent event in low grade endometrial stromal sarcoma, and have been more recently described in few instances of endometrial stromal sarcoma-like tumors in the genitourinary tract of men. In this article, we describe a previously unreported spindle cell sarcoma harboring an in-frame JAZF1::NUDT5 gene fusion, arising in the chest wall of a 51-year-old man. The tumor had unique morphologic features resembling both endometrial stromal sarcoma and endometrial stromal sarcoma-like tumors, consisting of a mixture of cytologically bland and pleomorphic spindle cells with brisk mitotic activity, within an alternating myxoid and fibrous stroma.
View Article and Find Full Text PDFReproductive Risk Estimation Calculator for Balanced Translocation Carriers: An Improved Web-based Resource for Medical Genetics Professionals.
Curr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
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